P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent

Bibliographic Details
Main Authors: Gabriella Perry, Jessica Merberg, Luis Gomez, Ankit Shah, Natalie Hauser
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424003807

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